Variant report

Variant	rs7328731
Chromosome Location	chr13:111056994-111056995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11838776	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs12853693	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927342	0.82[EUR][1000 genomes]
rs34402154	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34992019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35096048	0.80[EUR][1000 genomes]
rs4283091	0.82[EUR][1000 genomes]
rs4773178	0.83[CHD][hapmap];0.85[TSI][hapmap]
rs4773182	0.86[CHB][hapmap]
rs55940034	0.85[ASN][1000 genomes]
rs56687994	0.81[AMR][1000 genomes]
rs7140025	0.80[EUR][1000 genomes]
rs7140030	0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs7318742	0.85[EUR][1000 genomes]
rs7983374	0.81[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991842	0.93[MEX][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7328731	CARS2	cis	cerebellum	SCAN
rs7328731	TUBGCP3	cis	cerebellum	SCAN
rs7328731	RAB20	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111041400-111058000	Weak transcription	Fetal Intestine Large	intestine
3	chr13:111043000-111057000	Weak transcription	NHEK	skin
4	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:111043000-111060000	Weak transcription	A549	lung
6	chr13:111045600-111058200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:111045600-111059400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:111049000-111059600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
11	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:111050400-111057200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:111050400-111060400	Enhancers	HSMMtube	muscle
14	chr13:111050800-111059600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:111051400-111059400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:111051600-111060000	Weak transcription	Gastric	stomach
17	chr13:111051800-111059600	Weak transcription	Aorta	Aorta
18	chr13:111052000-111059600	Weak transcription	Brain Hippocampus Middle	brain
19	chr13:111052200-111057800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr13:111052200-111058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr13:111052200-111059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
23	chr13:111053000-111063600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:111053600-111058000	Weak transcription	Fetal Kidney	kidney
25	chr13:111053600-111058200	Weak transcription	Fetal Lung	lung
26	chr13:111053800-111057000	Weak transcription	Adipose Nuclei	Adipose
27	chr13:111054000-111057000	Weak transcription	Fetal Heart	heart
28	chr13:111054200-111057000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:111054200-111057000	Genic enhancers	Osteobl	bone
30	chr13:111054600-111058600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:111054600-111061200	Enhancers	NH-A	brain
32	chr13:111054800-111057800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:111054800-111060200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:111054800-111060400	Enhancers	NHLF	lung
35	chr13:111055000-111057400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:111055000-111058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:111055200-111059600	Weak transcription	Ovary	ovary
38	chr13:111055400-111057400	Enhancers	HMEC	breast
39	chr13:111055400-111057800	Weak transcription	Right Ventricle	heart
40	chr13:111055400-111059400	Weak transcription	Spleen	Spleen
41	chr13:111055400-111059600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:111055400-111059800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:111055600-111058000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:111055600-111058200	Weak transcription	Fetal Intestine Small	intestine
45	chr13:111056000-111057800	Weak transcription	Right Atrium	heart
46	chr13:111056000-111059600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr13:111056200-111057000	Enhancers	Placenta	Placenta
48	chr13:111056200-111057400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:111056200-111059200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:111056200-111060800	Enhancers	Left Ventricle	heart

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